April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Microperimetric study, multifocal erg ,spectral domain optical coherence tomography in 8 children with best syndrom (vitelliform macular distrophy type 2 gene VMD2, 11q13)
Author Affiliations & Notes
  • Sergio Zaccaria Scalinci
    Ophthalmology, University of Bologna SOrsola Malpighi, Bologna, Italy
  • Lucia v Scorolli
    Ophthalmology, University of Bologna SOrsola Malpighi, Bologna, Italy
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 3386. doi:
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      Sergio Zaccaria Scalinci, Lucia v Scorolli; Microperimetric study, multifocal erg ,spectral domain optical coherence tomography in 8 children with best syndrom (vitelliform macular distrophy type 2 gene VMD2, 11q13). Invest. Ophthalmol. Vis. Sci. 2014;55(13):3386.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: To analyze structural and functional data in 8 children with Best desease with mutations inVMD2 gene and asses their correlation. We demonstrated how useful these examinations are in order to make and monitorized Best desease.

Methods: 8 children aged 10-13 years affected by Best distrophy onset with mutations in VMD2 gene were enrolled in this prospective study and were evaluated best corrected visual acuity (BCVA),spectral domain optical coherence tomography (SD-OCT), multifocal electroretinogram(mfERG), and microperimetry (MP-1). Mutations in VMD2 gene was achieved after genetic analysis.

Results: BCVA ranged between 0.6 logMAR and 1.0 logMAR, evaluated using ETDRS charts. All children in the study underwent a SD-OCT,mfERG and MP-1. At onset structural and functional findings in all children examinated appared well correlated (p<0.01), MP-1 allowed us to evaluated and quantify the retinal sensitivity in this hereditary retinal dystrophy.

Conclusions: SD-OCT, mfERG and MP-1 are well correlated with the redused BCVA in patients with Best desease but these examinations are less correlated to retinal findings (p<0.01). The poor vision is due gradual lack of retinal sensitivity .

Keywords: 696 retinal degenerations: hereditary • 507 electrophysiology: clinical • 539 genetics  
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